Results 81 to 90 of about 27,503 (244)

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

, 2014
Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated
Peters, Heidi, Koster, Janet, Buck, Nicole, Wanders, Ronald, Yaplito-Lee, Joy, Pitt, James, Ruiter, Jos, Waterham, Hans, Ferdinandusse, Sacha   +8 more
core   +1 more source

Childhood Moyamoya disease accompanying Leigh syndrome

, 2013
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to
Karakas, O., Çalik, M., Deveer, M., Çullu, N., Nurefsan Boyaci, F., Karakas, E.   +5 more
core  

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Leigh Syndrome Due to mtDNA Pathogenic Variants

Journal of Inborn Errors of Metabolism and Screening, 2019
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of ...
Cristina Pereira, Carolina Fischinger de Souza, Leonardo Vedolin, Filippo Vairo, Cláudia Lorea, Cláudia Sobreira, Célia Nogueira, Laura Vilarinho   +7 more
doaj   +1 more source

Flap Anatomies and Victorian Veils: Penetrating the Female Reproductive Interior

Gender &History, EarlyView.
ABSTRACT This article examines the reappearance in the early nineteenth century of anatomical flapbooks in the context of obstetrical education in Britain, America and France. It asks why liftable paper flaps were reintroduced at this time after their disappearance from medical atlases in the eighteenth century.
Margaret Carlyle, Marcia D. Nichols
wiley   +1 more source

READING HOUSING AS AN URBAN INFRASTRUCTURE PATTERNING THE ‘WHORE STIGMA’

International Journal of Urban and Regional Research, EarlyView.
Abstract In this article, I conceptualize housing as an urban infrastructure enabling the reproduction, exploitation, circulation and emplacement of the ‘whore stigma’. To this end, I engage with infrastructural scholarship, particularly the emerging field of infrastructural housing studies, and situate it in dialogue with critical perspectives on ...
Daniela Morpurgo
wiley   +1 more source

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency

Nature Communications, 2016
Mitochondrial complex I deficiency is the most common respiratory chain defect in mitochondrial disease in children and currently there is no effective treatment.
Johannes K. Ehinger, Sarah Piel, Rhonan Ford, Michael Karlsson, Fredrik Sjövall, Eleonor Åsander Frostner, Saori Morota, Robert W. Taylor, Doug M. Turnbull, Clive Cornell, Steven J. Moss, Carsten Metzsch, Magnus J. Hansson, Hans Fliri, Eskil Elmér   +14 more
doaj   +1 more source

Association Between Vasomotor Symptoms of Menopause and Retirement: A Prospective Longitudinal Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective To assess the association between vasomotor symptoms of menopause and retirement in Australian women. Design Population‐based cohort study. Setting Secondary analysis of six surveys collected between 1996 and 2010. Population A total of 6928 Australian women, born between 1946 and 1951. Methods Data were obtained from participants in
Biresaw Wassihun Alemu, Michael Waller, Leigh R. Tooth   +2 more
wiley   +1 more source

Genetic and phenotypic variation in wood tiger moths from the Caucasus: insights into male warning color variation

Insect Science, EarlyView.
Coloration serves several fitness‐related functions, including thermoregulation, immunity, social signaling, sexual selection, and predator avoidance. Consequently, color polymorphism can have a significant impact on a species’ interactions with its environment, including its relationships with predators, prey, and potential mates. The wood tiger moth (
Juan A. Galarza, Ossi Nokelainen, Melanie N. Brien, Cristina Ottocento, Bibiana Rojas, Janne K. Valkonen, Tamar Chunashvili, Tõnis Tasane, Chris D. Jiggins, Johanna Mappes   +9 more
wiley   +1 more source

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

Genetics and Molecular Biology
Leigh syndrome is an early onset progressive disorder caused by defects in mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and mitochondrial genes are associated with the syndrome.
Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do A. Virmond, Marina de França B. Silva, Maria de Fatima F. Soares, Simone Brasil de O. Iglesias, Ariane Falconi, Juliana S. Silva, Viviane Nakano, Maria Fernanda Milanezi, Carmen Silvia C. Mendes, Marco Antonio Curiati, Cecília Micheletti   +13 more
doaj   +1 more source